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How Common Is Intersex? A Response to Anne Fausto-Sterling Author(s): Leonard Sax Source: The Journal of Sex Research, Vol.

39, No. 3 (Aug., 2002), pp. 174-178 Published by: Taylor & Francis, Ltd. Stable URL: Accessed: 19/03/2010 17:08
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How Commonis Intersex?A Responseto Anne Fausto-Sterling

Leonard Sax
The Montgomery Center for Research in Child and Adolescent Development, Maryland

Anne Fausto-Sterling's suggestion that the prevalence of intersexmight be as high as 1.7% has attractedwide attention in both the scholarlypress and the popular media.Many reviewersare not aware that thisfigure includesconditionswhich most clinicians do not recognizeas intersex,such as Klinefeltersyndrome,Turner syndrome,and late-onsetadrenalhyperplasia. If the termintersexis to retainany meaning,the termshould be restrictedto those conditionsin which chromosomal sex is inconsistentwithphenotypicsex, or in which thephenotypeis not classifiable as either male orfemale. Applyingthis moreprecise definition,the trueprevalence of intersex is seen to be about 0.018%, almost 100 times lower than FaustoSterling's estimateof 1.7%. Sometimesa child is bornwith genitaliawhich cannotbe classifiedas female or male.A geneticallyfemale child (i.e., with XX chromosomes)may be bornwith externalgenitalia which appearto be those of a normalmale. Or, a genetically male child (XY chromosomes)may be bornwith femaleexternalgenitalia.In very rarecases, a child may appearing be bornwith both female and male genitalia.Because these the conditionsare in some sense "in-between" two sexes, to are collectively referred as intersex. they How common is intersex? In her 1993 essay, biologist Anne Fausto-Sterlingacknowledged that "it is extremely difficult to estimate the frequency of intersexuality" (Fausto-Sterling,1993, p. 21). In this paper we will focus on establishing how often intersexual conditions occur, and what conditions should be consideredintersexual. In her most recent book, Sexing the Body: Gender Politics and the Construction Sexuality(Fausto-Sterling, of 2000), Fausto-Sterlingmaintainsthat human sexuality is not best understood as a dichotomybut as a continuum.She bases this assertionon her beliefs regardingintersexconditions. A chaptersubtitled"The Sexual Continuum" begins with the case of Levi Suydam, an intersexualliving in the 1840s who menstruated regularlybut who also had a penis writes: and testicles. Fausto-Sterling
While male and female standon the extremeends of a biological continuum,there are many bodies, bodies such as Suydam's,that evidently mix together anatomical components conventionally attributedto both males and females. The implications of my argumentfor a sexual continuumare profound.If naturereally offers us more than two sexes, then it follows that our current notions of masculinityand femininityare culturalconceits. ... Modem surgicaltechniqueshelp maintainthe two-sex system. Today children who are born "either/or-neither/both"-afairly common phenomenon -usually disappearfrom view because doctors"correct" them right away with surgery.(Fausto-Sterling, 2000, p. 31) to Centerfor Addresscorrespondence Leonard Sax, The Montgomery in P. Research ChildandAdolescent Development, 0. Box 108, 19710Fisher
Avenue, Suite J, Poolesville, MD 20837; e-mail: This work received no outside financialsupport.

Fausto-Sterlingasserts that 1.7% of human births are intersex.This figure was widely quotedin the aftermath of the book's publication."Insteadof viewing intersexuality as a genetic hiccup," wrote Courtney Weaver for the Post, "[Fausto-Sterling] Washington points out thatits frequency mandatesa fresherlook. In one study,intersexuality typically constitute 1.7% of a community" (Weaver, 2000). The New England Journal of Medicine applauded
Fausto-Sterling's "careful and insightful book. . . . She

[Fausto-Sterling] points out that intersexualnewbornsare not rare(they may accountfor 1.7%of births),so a review of our attitudes about these children is overdue. . ." (Breedlove, 2000). "Most people believe that there are only two sex categories," went the review in American Scientist. "Yet 17 out of every 1,000 people fail to meet our assumption that everyone is either male or female. This is the approximate incidence of intersexuals:individuals with XY chromosomes and female anatomy, XX chromosomes and male anatomy,or anatomy that is half male and half female." (Moore, 2000, p. 545) This reviewer assumed that Fausto-Sterlingwas using the term intersexin the usual way, the same way in which Fausto-Sterlingherself used the term in her 1993 essay, "TheFive Sexes" (Fausto-Sterling,1993): to refereitherto individuals who have XY chromosomes with predominantly female anatomy,XX chromosomes with predominantly male anatomy, or ambiguous or mixed genitalia. This assumptionis reasonable,because all the case histories presentedin her book Sexing the Body describe individuals who meet these criteria (Fausto-Sterling,2000). However, as we shall see, the 1.7% statistic is based on a much broaderdefinition of intersex. Fausto-Sterlingherself has encouragedthe belief that a significant fraction of the population is neither male nor female, but intersex. In an interview with The New York Times,she said that"I did some researchand we foundthat maybe 1 to 2 percentof all birthsdo not fall strictlywithin the tight definition of all-male or all-female. .. .there is greater human variation than supposed. . . [We should]

lighten up about what it means to be male or female. We


The Journal of Sex Research Volume 39, Number 3, August 2002: pp. 174-178



should definitely lighten up on those who fall in between because there are a lot of them"(Dreifus, 2001).

Fausto-Sterling's argument that human sexuality is a continuum,not a dichotomy,rests in large measureon her claim that intersex births are a fairly common phenomenon. Specifically, Fausto-Sterlingcomputes the incidence of intersexualbirthsto be 1.7 per 100 live births,or 1.7%. To arrive at that figure, she defines as intersex any "individual who deviates from the Platonic ideal of physical dimorphismat the chromosomal,genital, gonadal, or hormonal levels" (Blackless et al., 2000, p. 161). This definition is too broad. Fausto-Sterlingand her associates acknowledge that some of the individuals thus categorizedas intersex"areundiagnosedbecause they present no symptoms"(Blackless et al., 2000, p. 152). A definition of intersexwhich encompassesindividualswho are phenotypically indistinguishablefrom normal is likely to confuse both clinicians and patients. John Wiener, a urologist, has suggested defining intersex simply as "a discordancebetween phenotypic sex and chromosomal sex" (Wiener, 1999). While this definition would cover most true intersex patients, there are some rare conditions which are clearly intersex which are not capturedby this definition. For example, some people are mosaics: Different cells in their body have differentchromosomes. A 46,XY/46,XX mosaic is an individual in whom some cells have the male chromosomal complement (XY) and some cells have the female chromosomal complement (XX). If such an individualhas both a penis and a vagina, then there is no mismatch between phenotypic sex and genotypic sex: Both the phenotype and the genotype are intersexual.Yet accordingto Wiener's definition, such an individual woult not be intersex. A more comprehensive, yet still clinically useful definition of intersex would include those conditions in which (a) the phenotype is not classifiable as either male or female, or (b) chromosomalsex is inconsistentwith phenotypic sex. This definition is of course more clinically focussed thanthe definitionemployed by Fausto-Sterling. Using her definition of intersex as "any deviation from the Platonic ideal" (Blackless et al., 2000, p. 161), she lists all the following conditions as intersex, and she provides the following estimates of incidence for each condition (number of births per 100 live births): (a) late-onset congenital adrenal hyperplasia (LOCAH), 1.5/100; (b) Klinefelter (XXY), 0.0922/100; (c) othernon-XX, non-XY,excluding Turnerand Klinefelter,0.0639/100; (d) Turnersyndrome (XO), 0.0369/100; (e) vaginal agenesis, 0.0169/100; (f) classic congenital adrenal hyperplasia, 0.00779/10; (g) complete androgeninsensitivity,0.0076/100; (h) true hermaphrodites,0.0012/100; (i) idiopathic, 0.0009/100; and (j) partial androgen insensitivity, 0.00076/100. The chief problemwith this list is that the five most common conditions listed are not intersex conditions. If we examine

these five conditions in more detail, we will see that there is no meaningful clinical sense in which these conditions can be considered intersex. "Deviation from the Platonic ideal"is, as we will see, not a clinically useful criterionfor defining a medical condition such as intersex. The second problem with this list is the neglect of the five most common of these conditionsin Fausto-Sterling's book Sexing the Body (Fausto-Sterling, 2000). In her book, Fausto-Sterlingdraws her case histories exclusively from the ranks of individualswho are unambiguouslyintersex. However, using Fausto-Sterling'sown figures, such individuals accountfor less than0.02% of the generalpopulation. None of her case histories are drawn from the five most common conditions in her table, even though these five conditions constitute roughly 99% of the population she defines as intersex. Without these five conditions, intersex becomes a rare occurrence, occurring in fewer than 2 out of every 10,000 live births.

Among classic intersex conditions, the most common are congenital adrenal hyperplasia (CAH) and complete androgen insensitivity syndrome. According to FaustoSterling's figures, these two conditions occur with roughly the same frequency:about 0.008/100, or 8 birthsout of every 100,000. There is no dispute that these conditions are indeed intersex conditions. We discuss them here because some understanding these conditions is essenof tial in order to perceive how these conditions differ from the other syndromeswhich Fausto-Sterlingincludes in the category of intersex. CompleteAndrogen Insensitivity Syndrome These individualsare genetically male (XY), but owing to a defect in the androgenreceptor,theircells do not respond to testosteroneor other androgens(Boehmer et al., 2001). As a result, these individuals do not form male genitalia. Genetically male (XY) babies with this condition typically are born with a vaginal opening and clitoris indistinguishable from those seen in normal female (XX) babies. In almost all cases, the diagnosis is not suspected until puberty,when these "girls"are broughtto medical attention because they have never menstruated. Investigationat that point will invariablyreveal that these "girls" are in fact genetically male, thatthey have undescendedtesticles, and that neither the uterus nor the ovaries are present. These individuals are genotypically male, but phenotypically female. CongenitalAdrenal Hyperplasia In this syndrome, a defect in an enzyme involved in the synthesis of adrenalhormones leads to a blockage in one synthetic pathway,giving rise to excessive productionof androgenic hormones in a different pathway (White, 2001). These androgenswill masculinize a female (XX) fetus in utero. At birth, the girl's genitalia may appear completely masculine, or, more commonly, the genitalia


How Common is Intersex?

will be ambiguous-neither completely male nor completely female but somewherein between.

study of 220 women with LOCAH found mild clitoromegaly in only 10%; moderate or severe clitoromegaly was not reported(Moranet al., 2000). Sex ChromosomeAneuploidies Fausto-Sterlingdefines all sex chromosomecomplements other than XX or XY as intersex. Specifically, FaustoSterling includes Klinefeltersyndrome,Turnersyndrome, and all other non-XX, non-XY chromosomalvariationsin the intersex category. Klinefeltersyndrome.Babies bornwith Klinefeltersyndrome (47,XXY) have normal male genitalia. Male secondarysexual characteristics develop normallyin puberty, the testicles typically are small. Erection and although ejaculation are not impaired.Most men with Klinefelter syndromeare infertile,but an unknownproportionare fertile (Warburg, 1963). Because Klinefelter syndrome is most often discovered in the course of infertility evaluation, fertile men with Klinefeltersyndromeare likely to go completely undetected. Abramsky and Chapple (1997) have suggested that many men with Klinefeltersyndrome are never diagnosedbecause they are phenotypicallyindistinguishablefrom normal(46,XY) men. Turnersyndrome.Among the most salient features of Turnersyndrome (45,X) are infertility and short stature: Women with Turnersyndrome who are not treated with growth hormone typically will be about 16 centimeters shorterthan their predictedadult height based on parental heights (Holl, Kunze,Etzrodt,Teller,& Heinze, 1994). Sas et al. (1999) have demonstrated girls with Turnersynthat drome can achieve normal adult heights if daily doses of Although most women growth hormoneare administered. with Turnersyndrome cannot conceive a child, they can carry a child to term if a donated embryo or oocyte is implanted (Hovatta, Foudila, & S6derstr6m-Anttila, 2000). Girls with Turnersyndromedo not have ambiguous externalgenitalia(e.g., no clitoromegaly),nor do they typically experienceconfusion regardingtheir sexual identity. "A consistentfeaturedocumentedin Turner'ssyndromeis the unambiguous identification with the female sex," according to a recent review in The Lancet (Ranke & Saenger,2001, p. 310). Other chromosomal variants (non-XX and non-XY excluding Turner's and Klinefelter's). This category includes a variety of sex chromosomecomplements,such as XXX, XYY, and other less frequent arrangements. considersall such conditionsto be intersex. Fausto-Sterling Men with an extra Y chromosome(47,XYY) are not distinguishablefrom normal(46,XY) men, althoughthe average intelligence of men with this aneuploidyis lower than normal. Their fertility usually is not impaired.They are most commonly discoveredin the course of evaluationfor mild mental retardationor behavior problems (Fryns, Kleczkowska, Kubien, & Van den Berghe, 1995). Likewise, women with an extraX chromosome("tripleX," 47,XXX) are fertile, although the mean intelligence of women with this aneuploidyis also probablybelow aver-

Late-Onset CongenitalAdrenal Hyperplasia In late-onset congenital adrenalhyperplasia,the defect in the enzymatic pathway typically does not manifest itself until late childhood, adolescence, or later, and the degree of disruptionis much less thanin classic congenitaladrenal hypertrophy.Reviewing the list of conditions which Fausto-Sterlingconsiders to be intersex, we find that this one condition-late-onset congenital adrenalhyperplasia (LOCAH)-accounts for 88% of all those patients whom classifies as intersex (1.5/1.7 = 88%). Fausto-Sterling Froma clinician's perspective,however,LOCAHis not an intersexcondition.The genitaliaof these babies are normal at birth, and consonant with their chromosomes:XY males have normal male genitalia, and XX females have normal female genitalia. The average woman with this condition does not present until about 24 years of age (Speiser et al., 2000). Men with LOCAH present later, if ever: Many go throughlife undetectedor are discovered only incidentally (Holler et al., 1985). For example, if a daughteris discovered to have classic congenital adrenal hyperplasia,the parentsoften will be tested for evidence of overproduction of adrenal androgens, and one parent thereby may be discovered to have LOCAH. The most common presentingsymptom of LOCAH in men is thinning of scalp hair, but even this symptom is seen in only 50% of men with LOCAH under50 years of age (Dumic et al., 1985). Fausto-Sterlingrecognizes that if her definition of the intersexual as "an individual who deviates from the Platonic ideal of physical dimorphism"(Blackless et al., 2000, p. 161) is to have any clinical relevance,then at least some patientswith LOCAH must occasionally have problems which are intersexual in nature. Accordingly, she assertsthat "when late-onset CAH occurs in childhood or adolescence and causes significant clitoral growth, it is quite possible that surgical intervention will ensue." (Blackless et al., 2000, p. 161) The only referencegiven in supportof this statementis a first-personaccount in the woman's magazine Mademoiselle (Moreno & Goodwin, 1998). However, the article in Mademoiselle describes a phenotypically female but genotypically male (46,XY) individual with androgeninsensitivity: in other words, a LOCAH is never mentioned. case of true intersexuality. In a large-scale investigation of the naturalhistory of LOCAH in women, the chief complaints of symptomatic women were one or more of the following: oligomenorrhea, hirsutism, infertility, or acne. These investigators noted that "in some cases, affected girls have shown mild clitoromegaly,but not true genital ambiguity"(Speiser et al., 2000, p. 527). Many women have no symptoms at all: "Probablymany affected individuals are asymptomatic," notes anotherrecent review (White, 2001, p. 25). A recent



age (Bender, Linden, & Harmon, 2001). None of these chromosomalvariantsare associatedwith ambiguousgenitalia, or with any confusion regarding sexual identity. There is thereforeno clinical sense in which these individuals are intersex. VaginalAgenesis Fausto-Sterlingestimates that about 0.0169 birthsper 100 are characterized by vaginal agenesis (also known as vaginal atresia),a condition in which the distal thirdof the vagina fails to develop and is replaced by about 2 cm of fibrous tissue (Simpson, 1999). According to the definition which I have proposed, vaginal agenesis is not an intersex condition. Girls born with this condition have an XX genotype and normalovaries. In the majorityof cases, vaginoplasty restores normal female vaginal anatomy (Robson & Oliver, 2000). Women who have undergone vaginoplasty can and do go on to have successful term pregnancies (Moura, Navarro, & Nogueira, 2000). Nosologically, vaginal agenesis is to genital anatomy as cleft palate is to maxillofacial anatomy. Surgical correction for vaginal agenesis is conceptuallyno differentfrom surgical correctionfor cleft palate.


Subtracting these five categories-LOCAH, vaginal agenesis, Turner's syndrome, Klinefelter's syndrome, and other non-XX and non-XY aneuploidies-the incidence of intersex drops to 0.018%, almost 100 times lower than the estimate provided by Fausto-Sterling.This figure of 0.018% suggests that there are currently about 50,000 true intersexuals living in the United States. These individuals are of course entitled to the same expert care and consideration that all patients deserve. Nothing is gained, however, by pretendingthat there are 5,000,000 such individuals.

Nosology is the science of the classification of diseases. The first principle of nosology is the distinction between the normaland the pathological.This principleposes real difficulties for Fausto-Sterling.She often uses the word natural synonymously with normal (for an example, see the previousparagraph). However,natural and normal are not synonyms. A cow may give birth to a two-headed or Siamese calf by naturalprocesses, naturalbeing understood as per Fausto-Sterling'sdefinition as "producedby nature." Nevertheless, that two-headed calf unarguably manifests an abnormalcondition. Fausto-Sterling's insistence that all combinations of sexual anatomy be regardedas normal is reminiscent of Szasz's view of mental illness (Szasz, 1974). Szasz insisted that mental illness is not a real biological phenomenon but merely an invention of society. Like Fausto-Sterling, Szasz was suspicious of the distinction between normal and pathological.Fausto-Sterlingfollows the example set by Szasz in her belief that classifications of normal and abnormal sexual anatomy are mere social conventions, prejudices which can and should be set aside by an enlightened intelligentsia. This type of extremesocial constructionism confusing is and is not helpful to clinicians,to theirpatients,or to their patients'families.Dilutingthe termintersexto include"any deviation from the Platonic ideal of sexual dimorphism" (Blacklesset al., 2000, p. 152), as Fausto-Sterling suggests, deprivesthe termof any clinically useful meaning.

The most original feature of Fausto-Sterling'sbook is her reluctance to classify true intersex conditions as pathological. Regarding babies born with both a penis and a vagina, she writes: "Perhapswe will come to view such children as especially blessed or lucky. It is not so farfetched to think that some can become the most desirable of all possible mates, able to pleasure their partnersin a variety of ways" (Fausto-Sterling,2000, p. 113). FaustoSterling (2000) strongly affirms her belief that all possible combinations of sexual anatomy must be considered normal:
Complete maleness and complete femaleness represent the extreme ends of a spectrumof possible body types. That these extreme ends are the most frequenthas lent credence to the idea thatthey arenot only natural(thatis, producedby nature)but normal (that is, they representboth a statisticaland a social ideal). Knowledge of biological variation,however, allows us to conceptualizethe less frequentmiddlespaces as natural, althoughstatistically unusual.(p. 76)

The available data support the conclusion that human sexuality is a dichotomy, not a continuum. More than 99.98% of humans are either male or female. If the term intersexis to retainany clinicalmeaning,the use of this term shouldbe restricted those conditionsin which chromosoto mal sex is inconsistentwith phenotypicsex, or in which the phenotypeis not classifiableas eithermale or female. The birth of an intersex child, far from being "a fairly common phenomenon,"is actually a rareevent, occurring in fewer than 2 out of every 10,000 births.
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ManuscriptacceptedFebruary5, 2002